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Patient Advocacy Groups Band Together To Further Rare Disease Research

Patient Advocacy Groups Band Together To Further Rare Disease Research
bio-itworld.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from bio-itworld.com Daily Mail and Mail on Sunday newspapers.

United statesNew jerseyUnited kingdomVanderbilt universityAnna pfalzerTaylor morrisDeborah borfitzKristin hatcherTerry jo bichellKyle horningVanderbilt university medical centerNational organization for rare disordersDrug administrationHays foundationBaylor college of medicineQuest diagnostics

Rare Leader: Nicole Johnson, Executive Directors, FOXG1 Research Foundation

Rare Leader: Nicole Johnson, Executive Directors, FOXG1 Research Foundation
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New yorkUnited statesSands pointTowson universityBruce leuchterBill withersMike gragliaNicole johnsonDaniel fisherOrrin devinskyGabrielle bernsteinJohn crowleyForrest gumpBen fong torresMyron kandelTerry jo bichell

Rare disease marketing has become a family affair

With more rare disease therapies winning FDA approval, marketers have broadened their approach to engage families earlier.

United statesDebra millerGenzyme nexviazymeKarin waldmanArgenx vyvgartTerry jo bichellNational organization for rare disordersDrug administrationConsortium for outcomeOrphan drug actNational organizationRare disordersMirum pharmaceutical livmarliSarepta therapeutic amondysOutcome measuresNeurodevelopmental disorders

Researchers identify a common mechanism underlying diverse brain disorders

Researchers identify a common mechanism underlying diverse brain disorders Researchers at Vanderbilt University Medical Center (VUMC) have identified a common mechanism underlying a spectrum of epilepsy syndromes and neurodevelopmental disorders, including autism, that are caused by variations in a gene encoding a vital transporter protein in the brain. Their findings, reported last month in the journal Brain, suggest that boosting transporter function via genetic or pharmacological means could be beneficial in treating brain disorders linked to these genetic variations. This points to a clear direction of treating a wide spectrum of neurodevelopmental disorders, from various epilepsy syndromes (and) autism to neurodevelopmental delay and intellectual disabilities, caused by the pathological variants in this gene.

United statesJing qiong katty kangTerry jo bichellEmily hendersonResearchers at vanderbilt university medical centerVanderbilt university medical centerAmber freedஒன்றுபட்டது மாநிலங்களில்எமிலி ஹென்டர்சன்ஆராய்ச்சியாளர்கள் இல் வாண்டர்பில்ட் பல்கலைக்கழகம் மருத்துவ மையம்வாண்டர்பில்ட் பல்கலைக்கழகம் மருத்துவ மையம்அம்பர் விடுவிக்கப்பட்டது

Common mechanism found for diverse brain disorders: Study

E-Mail IMAGE: Jing-Qiong (Katty) Kang, M.D., Ph.D., associate professor of Neurology and Pharmacology, Vanderbilt University Medical Center. view more Credit: Vanderbilt University Medical Center Researchers at Vanderbilt University Medical Center (VUMC) have identified a common mechanism underlying a spectrum of epilepsy syndromes and neurodevelopmental disorders, including autism, that are caused by variations in a gene encoding a vital transporter protein in the brain. Their findings, reported last month in the journal Brain, suggest that boosting transporter function via genetic or pharmacological means could be beneficial in treating brain disorders linked to these genetic variations. This points (to) a clear direction of treating a wide spectrum of neurodevelopmental disorders, from various epilepsy syndromes (and) autism to neurodevelopmental delay and intellectual disabilities, caused by the pathological variants in this gene, said Jing-Qiong (Katty) Kan

United statesSarah poliquinKathryn rigsbyGerald nwosuWangzhen shenAlejandra romero moralesVivian gamaAnuj rastogiJing qiong katty kangFelicia mermerTerry jo bichellInnovation fundResearchers at vanderbilt university medical centerNational institutes of healthCharlesc gates centerVanderbilt university medical center